Variant report

Variant	rs2638123
Chromosome Location	chr3:22276847-22276848
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11709805	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11929229	0.92[ASN][1000 genomes]
rs1491889	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1609174	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1609176	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2035849	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2035850	0.83[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.92[ASN][1000 genomes]
rs2035853	0.85[EUR][1000 genomes]
rs2087721	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2638124	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2638133	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2638153	0.88[EUR][1000 genomes]
rs2695630	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2695632	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2728951	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2728971	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2728975	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2728997	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2728998	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2955644	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6550669	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs73048930	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003085	chr3:21887971-22415107	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv876616	chr3:21946847-22310622	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv876617	chr3:21955784-22310622	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv432404	chr3:22000296-22433396	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1010333	chr3:22085827-22356861	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv536519	chr3:22085827-22356861	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv589938	chr3:22231144-22372453	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv1003211	chr3:22244883-22584229	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv536520	chr3:22244883-22584229	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	esv3522264	chr3:22266497-22288869	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv3522265	chr3:22266497-22288869	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv876622	chr3:22268417-22348144	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv3729	chr3:22270379-22288323	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv589939	chr3:22275178-22286262	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2638123	OXSM	cis	cerebellum	SCAN

Chromatin state (count:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:22268000-22278400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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